Canonical Allele Identifier: CA1315425032

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050617C= , CM000664.2:g.189050617C=	GRCh38
NC_000002.11:g.189915343C= , CM000664.1:g.189915343C=	GRCh37
NC_000002.10:g.189623588C=	NCBI36
NG_011799.1:g.134263G=
NG_011799.2:g.134263G=
NG_011799.3:g.179685G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2991G= MANE Select	ENSP00000364000.3:p.Met997=
ENST00000374866.7:c.2991G=	ENSP00000364000.3:p.Met997=
ENST00000618828.1:c.1830G=	ENSP00000482184.1:p.Met610=
NM_000393.3:c.2991G=	NP_000384.2:p.Met997=
XM_011510573.1:c.2853G=	XP_011508875.1:p.Met951=
NM_000393.4:c.2991G=	NP_000384.2:p.Met997=
XM_011510573.3:c.2853G=	XP_011508875.1:p.Met951=
NM_000393.5:c.2991G= MANE Select	NP_000384.2:p.Met997=